Abstract：
UNLABELLED:A total of 22 Japanese patients with hypophosphatasia were included in a study analysing the relationship between mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene and the severity of the phenotype in Japanese patients with hypophosphatasia. The enzymatic activity of some of the identified mutant TNSALP proteins was also examined using corresponding expression vectors. Eighteen mutations, including 6 novel ones, were identified in the patients. Among them, the common mutations were F310L and T1559del. Of note, five patients with F310L mutation in one of the alleles exhibited a relatively mild phenotype without respiratory complications despite its perinatal onset. In contrast, the T1559del mutation is associated with perinatal lethal and infantile forms when not found in patients with the F310L mutation. The genotype-phenotype relationship was, to some extent, consistent with the enzymatic activity of the mutant ALP proteins; mutations K207E and G409C found in a surviving case of infantile hypophosphatasia, as well as F310L, retained some residual activities, whereas T1559del caused a complete loss of activity. CONCLUSION:In Japanese patients, the common mutations F310L and T1559del are associated with the relatively mild and lethal forms of hypophosphatasia, respectively. Our results may enhance the importance of genotyping patients with hypophosphatasia to predict their prognosis.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Michigami T,Uchihashi T,Suzuki A,Tachikawa K,Nakajima S,Ozono Kdoi
10.1007/s00431-004-1612-9keywords:
subject
Has Abstractpub_date
2005-05-01 00:00:00pages
277-82issue
5eissn
0340-6199issn
1432-1076journal_volume
164pub_type
杂志文章abstract：:An 8-year-old boy with an hepatic form of Wilson disease was treated with oral zinc sulphate as the primary and sole therapy. After 4 months, liver function had dramatically improved, and the parameters characterizing copper metabolism had also normalized. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441526
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abstract：:Blood volume was estimated using 51chromium labelled red cells and 125iodinated human serum albumin in 5 children with sepsis, in 6 burned children and 7 children with acute lymphoblastic leukaemia. Studies of the equilibration pattern demonstrated that the mixing time of labelled red cells was prolonged to 40 minutes...
journal_title：European journal of pediatrics
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doi：10.1007/BF00489987
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abstract：:In 166 full term, small-for-gestational-age (FT-SGA), 53 preterm, appropriate-for-gestational-age (PT-AGA), 27 PT-SGA and 206 FT-AGA infants a neurological examination at the age of 6 years was carried out. Data were collected on behaviour and school achievement. Major and minor neurological abnormalities were more fr...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441967
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abstract：UNLABELLED:In order to determine the response to high-frequency oscillatory ventilation (HFOV), used as an "early rescue" therapy, in a cohort of paediatric patients with acute respiratory distress syndrome (ARDS), a prospective clinical study was performed in a tertiary care paediatric intensive care unit. Ten consecu...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-004-1544-4
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01959077
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abstract：UNLABELLED:The symptoms of urinary tract infections in infants are very non-specific and have historically included prolonged hyperbilirubinaemia. We studied the results of routine urine samples in 319 infants with prolonged jaundice. Convincing findings of UTI was not found in any of these children even if one of them...
journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00493539
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
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journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442615
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442474
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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journal_title：European journal of pediatrics
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pub_type： 杂志文章,随机对照试验
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/pl00014250
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01959789
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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abstract：: ...
journal_title：European journal of pediatrics
pub_type： 信件
doi：10.1007/s00431-018-3259-y
更新日期：2019-01-01 00:00:00
